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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-133379928-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=133379928&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM108",
"hgnc_id": 28451,
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_023943.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC101927432",
"hgnc_id": null,
"hgvs_c": "n.131+1735G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NR_189054.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000300103",
"hgnc_id": null,
"hgvs_c": "n.79+1735G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000768831.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0651,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.14190149307250977,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_023943.4",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321871.11",
"protein_coding": true,
"protein_id": "NP_076432.1",
"strand": true,
"transcript": "NM_023943.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3727,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000321871.11",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_023943.4",
"protein_coding": true,
"protein_id": "ENSP00000324651.6",
"strand": true,
"transcript": "ENST00000321871.11",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 412,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000393130.7",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376838.3",
"strand": true,
"transcript": "ENST00000393130.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 488,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 340,
"cds_end": null,
"cds_length": 1467,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515826.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423338.1",
"strand": true,
"transcript": "ENST00000515826.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000511388.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "n.212C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000511388.1",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3723,
"cdna_start": 423,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001136469.3",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129941.1",
"strand": true,
"transcript": "NM_001136469.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 577,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930514.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600573.1",
"strand": true,
"transcript": "ENST00000930514.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 480,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930515.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600574.1",
"strand": true,
"transcript": "ENST00000930515.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 575,
"aa_ref": "P",
"aa_start": 73,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 317,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930516.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600575.1",
"strand": true,
"transcript": "ENST00000930516.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 575,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 570,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000930517.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600576.1",
"strand": true,
"transcript": "ENST00000930517.1",
"transcript_support_level": null
},
{
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"aa_length": 575,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2088,
"cdna_start": 349,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000930518.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600577.1",
"strand": true,
"transcript": "ENST00000930518.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 571,
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000930519.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600578.1",
"strand": true,
"transcript": "ENST00000930519.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000968854.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638913.1",
"strand": true,
"transcript": "ENST00000968854.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": 462,
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"consequences": [
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],
"exon_count": 6,
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"feature": "ENST00000968855.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638914.1",
"strand": true,
"transcript": "ENST00000968855.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
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"aa_length": 575,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3979,
"cdna_start": 683,
"cds_end": null,
"cds_length": 1728,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968856.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638915.1",
"strand": true,
"transcript": "ENST00000968856.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3889,
"cdna_start": 593,
"cds_end": null,
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"cds_start": 217,
"consequences": [
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],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000968857.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638916.1",
"strand": true,
"transcript": "ENST00000968857.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000968858.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000638917.1",
"strand": true,
"transcript": "ENST00000968858.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 312,
"cds_end": null,
"cds_length": 460,
"cds_start": 217,
"consequences": [
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],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000510183.1",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421486.1",
"strand": true,
"transcript": "ENST00000510183.1",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 681,
"cdna_start": 452,
"cds_end": null,
"cds_length": 446,
"cds_start": 217,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512137.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.217C>G",
"hgvs_p": "p.Pro73Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426301.1",
"strand": true,
"transcript": "ENST00000512137.5",
"transcript_support_level": 3
},
{
"aa_alt": "A",
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"aa_length": 120,
"aa_ref": "P",
"aa_start": 24,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 874,
"cdna_start": 579,
"cds_end": null,
"cds_length": 365,
"cds_start": 70,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000512662.5",
"gene_hgnc_id": 28451,
"gene_symbol": "TMEM108",
"hgvs_c": "c.70C>G",
"hgvs_p": "p.Pro24Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000427447.1",
"strand": true,
"transcript": "ENST00000512662.5",
"transcript_support_level": 5
},
{
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